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Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

Thallium poisoning can cause worsening nerve damage and vision loss without typical symptoms.

A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.

Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.

Teprotumumab for thyroid eye disease commonly causes fatigue, brittle nails, dry eyes, hair loss, muscle spasms, and dry mouth, with rare serious events like blood clots.

This rare genetic disorder causes permanent hair loss and skin bumps from birth.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

Injecting newborn mice with a niacin blocker caused skin, gut, and brain damage similar to human pellagra.

Nevoid basal cell carcinomas start in the skin and hair follicles.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.

Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.

Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.

Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.

A rare gene mutation causes skin fragility and itching without affecting hair or nails.

A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

Marie-Unna Hereditary Hypotrichosis is a rare genetic condition causing sparse hair growth, requiring specific recognition for proper care.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

Laser treatments are the most effective for porokeratotic adnexal ostial nevus.

The infant with a urea cycle disorder improved with treatment and a liver transplant.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.

A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.

Two siblings have a rare hair condition caused by a new genetic variant.

Oral etretinate improved hair length and reduced beading in monilethrix.

A 72-year-old man with sudden taste issues and hair growth was diagnosed with a severe stomach cancer and died within 5 months.

Professor P. K. Thomas was a pioneering neurologist who advanced the study of peripheral nerves and neuropathies.

Vitamin B12 deficiency can cause darkening of all nails.

NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.